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Turcot syndrome with polyposis

MedGen UID:
1826134
•Concept ID:
C5681818
•
Disease or Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020497
Orphanet: ORPHA99818

Definition

Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTurcot syndrome with polyposis

Professional guidelines

PubMed

Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.
Balmaña J, Balaguer F, Cervantes A, Arnold D; ESMO Guidelines Working Group
Ann Oncol 2013 Oct;24 Suppl 6:vi73-80. Epub 2013 Jun 27 doi: 10.1093/annonc/mdt209. PMID: 23813931
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A
Am J Clin Dermatol 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. PMID: 20141232
Hereditary colorectal cancer: risk assessment and management.
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Recent clinical studies

Etiology

Novel neoplasms associated with syndromic pediatric medulloblastoma: integrated pathway delineation for personalized therapy.
Georgescu MM, Whipple SG, Notarianni CM
Cell Commun Signal 2022 Aug 17;20(1):123. doi: 10.1186/s12964-022-00930-3. PMID: 35978432Free PMC Article
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Genetic Syndromes Associated with Central Nervous System Tumors.
Vijapura C, Saad Aldin E, Capizzano AA, Policeni B, Sato Y, Moritani T
Radiographics 2017 Jan-Feb;37(1):258-280. Epub 2016 Dec 2 doi: 10.1148/rg.2017160057. PMID: 27911673
Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.
Buecher B
Bull Cancer 2016 Feb;103(2):199-209. Epub 2016 Jan 19 doi: 10.1016/j.bulcan.2015.10.019. PMID: 26805944
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article

Diagnosis

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
Mokhashi N, Cai LZ, Shields CL, Benson WE, Ho AC
Curr Opin Ophthalmol 2021 Nov 1;32(6):567-573. doi: 10.1097/ICU.0000000000000798. PMID: 34456292
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Genetic Syndromes Associated with Central Nervous System Tumors.
Vijapura C, Saad Aldin E, Capizzano AA, Policeni B, Sato Y, Moritani T
Radiographics 2017 Jan-Feb;37(1):258-280. Epub 2016 Dec 2 doi: 10.1148/rg.2017160057. PMID: 27911673
Turcot's syndrome associated with intestinal non-Hodgkin's lymphoma: case report and review of literature.
Ma S, Hu Y, Yang J, Zhou X
Clin Neurol Neurosurg 2013 Feb;115(2):117-20. Epub 2012 Jun 5 doi: 10.1016/j.clineuro.2012.04.026. PMID: 22676959
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Therapy

Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome?
Ikeda J, Sawamura Y, van Meir EG
Br J Neurosurg 1998 Dec;12(6):576-8. doi: 10.1080/02688699844475. PMID: 10070471

Prognosis

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Disruption of the APC gene by t(5;7) translocation in a Turcot family.
Sahnane N, Bernasconi B, Carnevali I, Furlan D, Viel A, Sessa F, Tibiletti MG
Cancer Genet 2016 Mar;209(3):107-11. Epub 2015 Dec 17 doi: 10.1016/j.cancergen.2015.12.003. PMID: 26797314
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article
A novel APC gene mutation associated with a severe phenotype in a patient with Turcot syndrome.
Fritch Lilla SA, Yi JS, Hall BA, Moertel CL
J Pediatr Hematol Oncol 2014 Apr;36(3):e177-9. doi: 10.1097/MPH.0000000000000009. PMID: 24309598
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848

Clinical prediction guides

Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ
Genes Chromosomes Cancer 2022 Feb;61(2):105-113. Epub 2021 Nov 18 doi: 10.1002/gcc.23011. PMID: 34761457
Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
Mokhashi N, Cai LZ, Shields CL, Benson WE, Ho AC
Curr Opin Ophthalmol 2021 Nov 1;32(6):567-573. doi: 10.1097/ICU.0000000000000798. PMID: 34456292
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.
Carethers JM, Stoffel EM
World J Gastroenterol 2015 Aug 21;21(31):9253-61. doi: 10.3748/wjg.v21.i31.9253. PMID: 26309352Free PMC Article
Familial adenomatous polyposis.
Galiatsatos P, Foulkes WD
Am J Gastroenterol 2006 Feb;101(2):385-98. doi: 10.1111/j.1572-0241.2006.00375.x. PMID: 16454848
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis.
Tops CM, Vasen HF, van Berge Henegouwen G, Simoons PP, van de Klift HM, van Leeuwen SJ, Breukel C, Fodde R, den Hartog Jager FC, Nagengast FM
Am J Med Genet 1992 Jul 15;43(5):888-93. doi: 10.1002/ajmg.1320430528. PMID: 1322639

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